BACKGROUND: phenylketonuria is manifested by partial or total deficiency of the hepatic enzyme phenylalanine hydroxylase that, in excess, has a toxic effect on the central nervous system functions, reflecting in the individual's global development. PURPOSE: to submit the alterations in the development verified in scientific studies with individuals with phenylketonuria, and to contemplate the abilities related to language development. CONCLUSION: individuals with phenylketonuria are risky for alterations in the cognitive, linguistics, motor and social-behavior functions. Deficits in the executive functions and neuropsychological abilities are common and imply in discrepancies as for language abilities development. The findings justify the proposal forwarding to the Ministry of Health with views to contracting a Speech and Language Pathologist in the accredited Neonatal Screening Programs.
Phenylketonuria; Child Development; Language Development
